1. Gene
  2. ALG14 - ALG14 UDP-N-acetylglucosaminyltransferase subunit Gene

ALG14 - ALG14 UDP-N-acetylglucosaminyltransferase subunit Gene

中文名称:ALG14 UDP-N-乙酰葡糖胺基转移酶亚单位

种属: Homo sapiens

同用名: CMS15; MEPCA; IDDEBF

基因 ID: 199857 | 基因类型: protein coding

关于 ALG14

Cytogenetic location: 1p21.3 Genomic coordinates (GRCh38): 1:94,974,405-95,072,951 (from NCBI)

This gene has 3 transcripts (splice variants), 192 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 2.5), thyroid (RPKM 2.5) and 25 other tissues.

功能概要

该基因是糖基转移酶 1 家族的成员。编码的蛋白质和 ALG13 被认为是 UDP-GlcNAc 转移酶的亚基,它催化内质网 N-连接糖基化的前两个关键步骤。该基因的突变与先天性肌无力综合征 (CMSWTA) 有关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供,2015 年 3 月]

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

ALG14 基因产物(2)

mRNA Protein Name
NM_001305242.2 NP_001292171.1 UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 2
NM_144988.4 NP_659425.1 UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 1

ALG14 蛋白结构

Alg14

Alg14: Oligosaccharide biosynthesis protein Alg14 like (39 - 215)

  • 0
  • 100
  • 200
  • 216 a.a.
蛋白主名 其他名称

UDP-N-acetylglucosamine transferase subunit ALG14 homolog

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 15

Congenital Myasthenic Syndrome 15

CMS15

Myasthenic Syndrome, Congenital, Without Tubular Aggregates

Cmswta

Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies

IDDEBF

Myopathy, Epilepsy, And Progressive Cerebral Atrophy

MEPCA

Congenital Myasthenic Syndromes With Glycosylation Defect
Cerebral Atrophy
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Myopathy, Myofibrillar, 8

Myofibrillar Myopathy 8

MFM8

Myopathy, Myofibrillar, Type 8

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

Myopathy, Centronuclear, 4

CNM4

Centronuclear Myopathy 4

Congenital Myopathy With Internal Nuclei And Atypical Cores

Centronuclear Myopathy Type 4

Myopathy, Centronuclear, Type 4

Myasthenic Syndrome, Congenital, 12

Congenital Myasthenic Syndrome 12

CMS12

Myasthenic Syndrome, Congenital, With Tubular Aggregates 1

Cmsta1

Myasthenia, Congenital, 12, With Tubular Aggregates

Congenital Myasthenia 12 With Tubular Aggregates

Limb-Girdle Myasthenia With Tubular Aggregates

Myasthenia, Congenital, With Tubular Aggregates 1

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14

CMS14

Cmsta3

Myasthenic Syndrome, Congenital, With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates

Congenital Myasthenic Syndrome 14, With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 3

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3

Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7

MFM7

Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

Myopathy, Myofibrillar, Type 7

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Echinostomiasis

Infection By Echinochasmus

Congenital Muscular Dystrophy-Dystroglycanopathy A14

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14

Mddga14

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10

Autosomal Recessive Spinocerebellar Ataxia 10

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia, Autosomal Recessive, 10

Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q

Cdg Iiq

Cdgiiq

Congenital Disorder Of Glycosylation Type Iiq

Cog2-Cdg

Cog2-Related Congenital Disorder Of Glycosylation

Cdgiidq

Congenital Disorder Of Glycosylation 2q

Cdg-Iiq

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Developmental And Epileptic Encephalopathy 15

DEE15

Epileptic Encephalopathy, Early Infantile, 15

Eiee15

Developmental And Epileptic Encephalopathy, 15

Early Infantile Epileptic Encephalopathy 15

Encephalopathy, Epileptic, Early Infantile, Type 15

Early Infantile Epileptic Encephalopathy With Suppression Bursts

X-Linked Infantile Spasm Syndrome

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Cohen Syndrome

Pepper Syndrome

COH1

Hypotonia, Obesity, And Prominent Incisors

Coh

Chs1, Formerly

Norio Syndrome

Obesity-Hypotonia Syndrome

Prominent Incisors-Obesity-Hypotonia Syndrome

Chs1

Hypotonia-Obesity-Prominent Incisors

Stage 4s Neuroblastoma

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease

2p21 Microdeletion Syndrome

HCS

Homozygous 2p16 Deletion Syndrome, Formerly

2p21 Deletion Syndrome

Del(2)(P21)

Monosomy 2p21

Atypical Hypotonia-Cystinuria Syndrome

Atypical Hcs

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus ALG14 VGNC VGNC:25826
Mus musculus ALG14 MGD MGI:1914039
Canis familiaris ALG14 VGNC VGNC:37796
Felis catus ALG14 VGNC VGNC:59744
Rattus norvegicus ALG14 RGD RGD:1312003